title: Acanthosis nigricans, Abnormal Facial Appearance and Dentition in an Insulin Resistance Syndrome.
abstract: BACKGROUND
  Insulin resistance syndromes are a heterogeneous group of disorders with variable clinical phenotypes, associated with increased blood glucose and insulin levels.
  
  
  METHODS
  Herein, a 10-year old girl with abnormal face and dentition is presented. She has suffered from diabetes mellitus type I since she was 6 years old. Hyperglycemia did not respond to age appropriate insulin dosage; therefore, insulin dosage was increased, but did not lead to appropriate glycemic control. Twenty two exons of insulin receptor gene (INSR), on short arm of chromosome 19, were sequenced, but no identifiable disease causing mutation was detected.
  
  
  CONCLUSIONS
  Although a rare mutation within the intronic or promoter region has not been excluded in this case, further molecular studies on patients with insulin resistance syndromes associated with certain features are needed.
authors.affiliation: Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Ahya
authors.initials: A
authors.lastname: Zaridoust
authors.forename: Ali
authors.initials: A
authors.lastname: Rabbani
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Sayarifard
authors.forename: Christian T
authors.initials: CT
authors.lastname: Thiel
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
keywords: Gene; Genetic Polymorphism; Hyperglycemia; Insulin Resistance Syndrome; Mutation